Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 7, 2011, Pages 1685-1689

  Lehalle, Daphne ^a,b   Williams, Charles ^c   Siu, Victoria Mok ^d   Clayton Smith, Jill ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF WESTERN ONTARIO   (Canada)

Author keywords

Fetal pads; Pitt Hopkins syndrome; Volar pads

Indexed keywords

BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; PROTEIN TCF4; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONSTIPATION; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FEMALE; FETAL PAD; FINGER; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HAPPY PUPPET SYNDROME; HUMAN; HYPERSALIVATION; HYPERVENTILATION; INFANT; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; PITT HOPKINS SYNDROME; PRIORITY JOURNAL; RETT SYNDROME; TCF4 GENE; TOE;

ADOLESCENT; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CHILD; CHILD, PRESCHOOL; FACIES; FEMALE; FINGERS; HUMANS; HYPERVENTILATION; MALE; MENTAL RETARDATION; MUTATION; PHENOTYPE; TOES; TRANSCRIPTION FACTORS;

EID: 79959502528     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34055     Document Type: Article

References (48)

1. Allanson J, Kavamura I, Neri G, Noonan J, Poss A, Kerr B. 2007. Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway. Eur J Med Genet 50: 482-483.
2. Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, Colleaux L. 2007. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet 80: 988-993.
3. Babler WJ. 1987. Prenatal development of dematoglyphics pattern: Associations with epidermal ridge, volar pad and bone morphology. Coll Antropol 1: 297-304.
4. Bertola DR, Sugayama SM, Albano LM, Kim CA, Gonzalez CH. 1999. Noonan syndrome: A clinical and genetic study of 31 patients. Rev Hosp Clin Fac Med Sao Paulo 54: 147-150.
5. Bonnevie K. 1924. Studies on papillary patterns in human fingers. J Genet 15: 1-111.
6. Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber R. 2007. Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. Hum Mol Genet 16: 1488-1494.
7. de Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, Tardieu M, Viot G, Jaubert F, Munnich A, Colleaux L, Vekemans M, Etchevers H, Lyonnet S, Amiel J. 2009. Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat 30: 669-676.
8. de Vries BB, Bitner-Glindzicz M, Knight SJ, Tyson J, MacDermont KD, Flint J, Malcolm S, Winter RM. 2000. A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome. Clin Genet 58: 483-487.
9. Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V. 2001. Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. Am J Med Genet 98: 92-100.
10. Galan-Gomez E, Carbonell-Perez JM, Cardesa-Garcia JJ, Val-Sanchez de Leon JM, Campo-Sampedro FM, Martinez-Frias ML, Frias JL. 2004. A diagnostic conundrum: Two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome? Am J Med Genet Part A 125A: 306-309.
11. Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, Rankin J, Mathieu-Dramard M, Morin G, Martin-Coignard D, Dubourg C, Chabrol B, Arfi J, Giuliano F, Lambert JC, Philip N, Sarda P, Villard L, Goosens M, Moncla A. 2008. TCF4 deletions in Pitt-Hopkins Syndrome. Hum Mutat 29: E242-E251.
12. Green H, Thomas J. 1978. Pattern formation by cultured human epidermal cells: Development of curved ridges resembling dermatoglyphs. Science 200: 1385-1388.
13. Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C. 2004. The 11q terminal deletion disorder: A prospective study of 110 cases. Am J Med Genet Part A 129A: 51-61.
14. Hamrick MW. 2003. Evolution and development of mammalian limb integumentary structures. J Exp Zool B Mol Dev Evol 298: 152-163.
15. Hennekam RC, Van Den Boogaard MJ, Sibbles BJ, Van Spijker HG. 1990. Rubinstein-Taybi syndrome in the Netherlands. Am J Med Genet 6: 17-29.
16. Kahn HS, Graff M, Stein AD, Zybert PA, McKeague IW, Lumey LH. 2008. A fingerprint characteristic associated with the early prenatal environment. Am J Hum Biol 20: 59-65.
17. Katznelson MB, Goldman B. 1982. Fetal dermatoglyphics. Clin Genet 21: 237-242.
18. Kucken M. 2007. Models for fingerprint pattern formation. Forensic Sci Int 17: 85-96.
19. Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L. 2009. 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet 46: 168-175.
20. Lo IF, Cheung LY, Ng AY, Lam ST. 1998. Interstitial Dup(1p) with findings of Kabuki make-up syndrome. Am J Med Genet 78: 55-57.
21. Lukusa T, Fryns JP. 1998. Syndrome of facial, oral, and digital anomalies due to 7q21.2->q22.1 duplication. Am J Med Genet 80: 454-458.
22. Lukusa T, Willekens D, Lukusa N, De Cock F, Fryns JP. 2001. Terminal 6q25.3 deletion and abnormal behaviour. Genet Couns 12: 213-221.
23. Mathew L, Hegde AM, Rai K. 2005. Dermatoglyphic peculiarities in children with oral clefts. J Indian Soc Pedod Prev Dent 23: 179-182.
24. Merks JHM, Ozgen HM, Cluitmans TLM, van der Burg-van Rijn JM, Cobben JM, van Leeuwen FE, Hennekam RCM. 2006. Normal values for morphological abnormalities in school children. Am J Med Genet Part A 140A: 2091-2109.
25. Miller JR, Giroux J. 1966. Dermatoglyphics in pediatric practice. J Pediatr 69: 302-312.
26. Mulvihill JJ, Smith DW. 1969. The genesis of dermatoglyphics. J Pediatr 75: 579-589.
27. Niikawa N, Kuroki Y, Kajii T. 1982. The dermatoglyphic pattern of the Kabuki make-up syndrome. Clin Genet 21: 315-320.
28. Orstavik KH, Tangeraas T, Molven A, Prescott TE. 2007. Distal phalangeal creases-A distinctive dysmorphic feature in disorders of the RAS signalling pathways? Eur J Med Genet 50: 155-158.
29. Oudesluijs GG, Hordijk R, Boon M, Sijens PE, Hennekam RC. 2005. Plantar lipomatosis, unusual facies, and developmental delay: Confirmation of Pierpont syndrome. Am J Med Genet Part A 137A: 77-80.
30. Penrose LS. 1968. Medical significance of finger-prints and related phenomena. Br Med J 2: 321-325.
31. Pitt D, Hopkins I. 1978. A syndrome of mental retardation, wide mouth and intermittent overbreathing. Aust Paediatr J 14: 182-184.
32. Prescott K, Woodfine K, Stubbs P, Super M, Kerr B, Palmer R, Carter NP, Scambler P. 2005. A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome. Hum Genet 116: 83-90.
33. Purvis-Smith SG, Menser MA. 1973. Genetic and environmental influences on digital dermatoglyphics in congenital rubella. Pediatr Res 7: 215-219.
34. Qazi QH, Masakawa A, McGann B, Woods J. 1980. Dermatoglyphic abnormalities in the fetal alcohol syndrome. Teratology 21: 157-160.
35. Reddy S, Dolzhanskaya N, Krogh J, Velinov M. 2009. A novel 1.4Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation. Eur J Med Genet 52: 443-445.
36. Romano C, Baraitser M, Thompson E. 1994. A clinical follow-up of British patients with FG syndrome. Clin Dysmorphol 3: 104-114.
37. Salpietro CD, Briuglia S, Bertuccio G, Rigoli L, Mingarelli R, Dallapiccola B. 2005. Report of a third family with Oliver syndrome. Am J Med Genet Part A 139A: 159-161.
38. Schrander-Stumpel CT, Spruyt L, Curfs LM, Defloor T, Schrander JJ. 2005. Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet Part A 132A: 234-243.
39. Seidenberg-Kajabova H, Pospisilova V, Vranakova V, Varga I. 2010. An original histological method for studying the volar skin of the fetal hands and feet. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 154: 211-218.
40. Shimojima K, Inoue T, Fujii Y, Ohno K, Yamamoto T. 2009. A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae. Eur J Med Genet 52: 433-435.
41. Takano K, Lyons M, Moyes C, Jones J, Schwartz CE. 2010. Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. Clin Genet 78: 282-288.
42. Teebi AS, Sundareshan TS, Hammouri MY, Al-Awadi SA, al-Saleh QA. 1989. A new autosomal recessive disorder resembling Weaver syndrome. Am J Med Genet 33: 479-482.
43. Thompson EM, Hill S, Leonard JV, Pembrey ME. 1987. A girl with the Weaver syndrome. J Med Genet 24: 232-234.
44. Tyson C, Harvard C, Locker R, Friedman JM, Langlois S, Lewis ME, Van Allen M, Somerville M, Arbour L, Clarke L, McGilivray B, Yong SL, Siegel-Bartel J, Rajcan-Separovic E. 2005. Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet Part A 139A: 173-185.
45. Wilson GN. 1998. Thirteen cases of Niikawa-Kuroki syndrome: Report and review with emphasis on medical complications and preventive management. Am J Med Genet 79: 112-120.
46. Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, De Ravel T, Bijlsma E, Hennekam RCM, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A. 2007. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 80: 994-1001.
47. Zweier C, Sticht H, Bijlsma EK, Clayton-Smith J, Boonen SE, Fryer A, Greally MT, Hoffmann L, den Hollander NS, Jongmans M, Kant SG, King MD, Lynch SA, McKee S, Midro AT, Park SM, Ricotti V, Tarantino E, Wessels M, Peippo M, Rauch A. 2008. Further delineation of Pitt-Hopkins syndrome: Phenotypic and genotypic description of 16 novel patients. J Med Genet 45: 738-744.
48. Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A. 2009. CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet 85: 655-666.