Neu-laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH

American Journal of Human Genetics

Volumn 94, Issue 6, 2014, Pages 898-904

  Shaheen, Ranad ^a   Rahbeeni, Zuhair ^a   Alhashem, Amal ^c   Faqeih, Eissa ^b   Zhao, Qi ^d   Xiong, Yong ^d   Almoisheer, Agaadir ^a   Al Qattan, Sarah M ^a   Almadani, Halima A ^c   Al Onazi, Noufa ^c   Al Baqawi, Badi S ^b   Saleh, Mohammad Ali ^b   Alkuraya, Fowzan S ^a,e  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING FAHAD MEDICAL CITY   (Saudi Arabia)

^c The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^d YALE UNIVERSITY   (United States)

^e ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOGLYCERATE DEHYDROGENASE; SERINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 1; CLEFT LIP; CLEFT PALATE; CONSANGUINEOUS MARRIAGE; CONTRACTURE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DRIED BLOOD SPOT TESTING; EXOME; EXOPHTHALMOS; FACE DEFORMITY; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENERALIZED EDEMA; GESTATIONAL AGE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HYDRAMNIOS; HYPOPLASIA; ICHTHYOSIS; LARGE EAR; LIMB DEFORMITY; LINKAGE ANALYSIS; LOW SET EAR; MALE; MICROCEPHALY; MICROGNATHIA; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NEU LAXOVA SYNDROME; NEWBORN; NEWBORN DEATH; PATHOGENESIS; PHENOTYPE; PNEUMONIA; PRIORITY JOURNAL; PSEUDOMONAS INFECTION; SEPSIS; SKIN EDEMA; SWELLING; TANDEM MASS SPECTROMETRY; CLEFT LIP PALATE; CLINICAL ARTICLE; EAR LOBE; INBORN ERROR OF METABOLISM;

ABNORMALITIES, MULTIPLE; ALLELES; AMINO ACID SEQUENCE; ANIMALS; BRAIN DISEASES; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHROMOSOMES, HUMAN, PAIR 1; CONSANGUINITY; FEMALE; FETAL GROWTH RETARDATION; GENETIC LOCI; HOMOZYGOTE; HUMANS; ICHTHYOSIS; INFANT; LIMB DEFORMITIES, CONGENITAL; MAGNETIC RESONANCE IMAGING; MICE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PHOSPHOGLYCERATE DEHYDROGENASE; PROTEIN CONFORMATION; PSYCHOMOTOR DISORDERS; RARE DISEASES; SEIZURES; SERINE; ULTRASONOGRAPHY, PRENATAL;

EID: 84902260965     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.04.015     Document Type: Article

References (28)

1. R.L. Neu, T. Kajii, L.I. Gardner, and S.F. Nagyfy A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings Pediatrics 47 1971 610 612
2. R. Laxova, P.T. Ohara, and J.A. Timothy A further example of a lethal autosomal recessive condition in sibs J. Ment. Defic. Res. 16 1972 139 143
3. G.I. Lazjuk, I.W. Lurie, T.I. Ostrowskaja, E.D. Cherstvoy, I.A. Kirillova, M.K. Nedzved, and S.S. Usoev Brief clinical observations: the Neu-Laxova syndrome - a distinct entity Am. J. Med. Genet. 3 1979 261 267
4. R. Shaheen, E. Faqeih, S. Ansari, G. Abdel-Salam, Z.N. Al-Hassnan, T. Al-Shidi, R. Alomar, S. Sogaty, and F.S. Alkuraya Genomic analysis of primordial dwarfism reveals novel disease genes Genome Res. 24 2014 291 299
5. T.I. Ostrovskaya, and G.I. Lazjuk Cerebral abnormalities in the Neu-Laxova syndrome Am. J. Med. Genet. 30 1988 747 756
6. R.F. Mueller, R.M. Winter, and C.P. Naylor Neu-Laxova syndrome: two further case reports and comments on proposed subclassification Am. J. Med. Genet. 16 1983 645 649
7. C.I. Scott, J.M. Louro, K.M. Laurence, M. Tolarová, J.G. Hall, S. Reed, and C.J. Curry Comments on the Neu-Laxova syndrome and CAD complex Am. J. Med. Genet. 9 1981 165 175
8. I.A. Shved, G.I. Lazjuk, and E.D. Cherstvoy Elaboration of the phenotypic changes of the upper limbs in the Neu-Laxova syndrome Am. J. Med. Genet. 20 1985 1 11
9. K.R. Carder, J.E. Fitzpatrick, and W.L. Weston What syndrome is this? Neu-Laxova syndrome Pediatr. Dermatol. 20 2003 78 80
10. D. Horn, D. Müller, H. Thiele, and J. Kunze Extreme microcephaly, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome? Clin. Dysmorphol. 6 1997 323 328
11. M.H. Karimi-Nejad, H. Khajavi, M.J. Gharavi, and R. Karimi-Nejad Neu-Laxova syndrome: report of a case and comments Am. J. Med. Genet. 28 1987 17 23
12. F.S. Alkuraya Discovery of rare homozygous mutations from studies of consanguineous pedigrees Curr. Protoc. Hum. Genet. Chapter 6 2012 12
13. F.S. Alkuraya Autozygome decoded Genet. Med. 12 2010 765 771
14. V. Mishra, A. Kumar, V. Ali, T. Nozaki, K.Y. Zhang, and V. Bhakuni Glu-108 is essential for subunit assembly and dimer stability of D-phosphoglycerate dehydrogenase from Entamoeba histolytica Mol. Biochem. Parasitol. 181 2012 117 124
15. C. Turgeon, M.J. Magera, P. Allard, S. Tortorelli, D. Gavrilov, D. Oglesbee, K. Raymond, P. Rinaldo, and D. Matern Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots Clin. Chem. 54 2008 657 664
16. A.G.W. Hunter Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs CMAJ 167 2002 367 372
17. F.S. Alkuraya Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity Am. J. Med. Genet. A. 152A 2010 2160 2163
18. A.M. Alazami, D. Monies, B.F. Meyer, F. Alzahrani, M. Hashem, M.A. Salih, and F.S. Alkuraya Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism Am. J. Med. Genet. A. 158A 2012 245 246
19. S.B. Ng, K.J. Buckingham, C. Lee, A.W. Bigham, H.K. Tabor, K.M. Dent, C.D. Huff, P.T. Shannon, E.W. Jabs, and D.A. Nickerson et al. Exome sequencing identifies the cause of a mendelian disorder Nat. Genet. 42 2010 30 35
20. J. Jaeken, M. Detheux, L. Van Maldergem, M. Foulon, H. Carchon, and E. Van Schaftingen 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis Arch. Dis. Child. 74 1996 542 545
21. S.N. van der Crabben, N.M. Verhoeven-Duif, E.H. Brilstra, L. Van Maldergem, T. Coskun, E. Rubio-Gozalbo, R. Berger, and T.J. de Koning An update on serine deficiency disorders J. Inherit. Metab. Dis. 36 2013 613 619
22. K. Yoshida, S. Furuya, S. Osuka, J. Mitoma, Y. Shinoda, M. Watanabe, N. Azuma, H. Tanaka, T. Hashikawa, S. Itohara, and Y. Hirabayashi Targeted disruption of the mouse 3-phosphoglycerate dehydrogenase gene causes severe neurodevelopmental defects and results in embryonic lethality J. Biol. Chem. 279 2004 3573 3577
23. T. Sayano, Y. Kawakami, W. Kusada, T. Suzuki, Y. Kawano, A. Watanabe, K. Takashima, Y. Arimoto, K. Esaki, and A. Wada et al. L-serine deficiency caused by genetic Phgdh deletion leads to robust induction of 4E-BP1 and subsequent repression of translation initiation in the developing central nervous system FEBS J. 280 2013 1502 1517
24. S. Furuya, T. Tabata, J. Mitoma, K. Yamada, M. Yamasaki, A. Makino, T. Yamamoto, M. Watanabe, M. Kano, and Y. Hirabayashi L-serine and glycine serve as major astroglia-derived trophic factors for cerebellar Purkinje neurons Proc. Natl. Acad. Sci. USA 97 2000 11528 11533
25. M. Yamasaki, K. Yamada, S. Furuya, J. Mitoma, Y. Hirabayashi, and M. Watanabe 3-Phosphoglycerate dehydrogenase, a key enzyme for l-serine biosynthesis, is preferentially expressed in the radial glia/astrocyte lineage and olfactory ensheathing glia in the mouse brain J. Neurosci. 21 2001 7691 7704
26. F.S. Alkuraya, X. Cai, C. Emery, G.H. Mochida, M.S. Al-Dosari, J.M. Felie, R.S. Hill, B.J. Barry, J.N. Partlow, and G.G. Gascon et al. Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected] Am. J. Hum. Genet. 88 2011 536 547
27. R. Steenbergen, T.S. Nanowski, A. Beigneux, A. Kulinski, S.G. Young, and J.E. Vance Disruption of the phosphatidylserine decarboxylase gene in mice causes embryonic lethality and mitochondrial defects J. Biol. Chem. 280 2005 40032 40040
28. T.J. de Koning, L.W. Klomp, A.C. van Oppen, F.A. Beemer, L. Dorland, I. van den Berg, and R. Berger Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency Lancet 364 2004 2221 2222