Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: Report of 13 new families

Clinical Genetics

Volumn 85, Issue 5, 2014, Pages 464-469

  Petit, F ^a,b   Jourdain, A S ^a   Andrieux, J ^a   Baujat, G ^c   Baumann, C ^d   Beneteau, C ^e   David, A ^e   Faivre, L ^f   Gaillard, D ^g   Gilbert Dussardier, B ^h   Jouk, P S ⁱ   Le Caignec, C ^e   Loget, P ^j   Pasquier, L ^k   Porchet, N ^a,b   Holder Espinasse, M ^a,b,l   Manouvrier Hanu, S ^a,b   Escande, F ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b UNIV LILLE   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d Section of Radiology   (France)

^e NANTES UNIVERSITY HOSPITAL   (France)

^f UNIVERSITÉ DE BOURGOGNE   (France)

^g HÔPITAL MAISON BLANCHE   (France)

^h POITIERS UNIVERSITY HOSPITAL   (France)

ⁱ GRENOBLE UNIVERSITY HOSPITAL   (France)

^j RENNES UNIVERSITY HOSPITAL   (France)

^k SERVICE DE RHUMATOLOGIE   (France)

^l GUY S HOSPITAL   (United Kingdom)

more..

Author keywords

17p13.3 duplication; BHLHA9; Ectrodactyly; SHFLD; SHFM

Indexed keywords

BASIC LOOP HELIX TRANSCRIPTION FACTOR A9; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; BHLHA9 PROTEIN, HUMAN;

ARTICLE; BONE DISEASE; CHROMOSOME 17P; CHROMOSOME 17P13.3; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; ECTRODACTYLY; FEMALE; HUMAN; LONG BONE; LONG BONE DEFICIENCY; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; CHROMOSOME 17; DUPLICATE GENE; GENETICS; LIMB MALFORMATION; PATHOPHYSIOLOGY; PHENOTYPE; TIBIA;

BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; GENES, DUPLICATE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; PEDIGREE; PHENOTYPE; TIBIA;

EID: 84897470695     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12219     Document Type: Article

References (6)

1. Duijf PH, van Bokhoven H, Brunner HG. Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet 2003: 12: R51-R60.
2. Lezirovitz K, Maestrelli SR, Cotrim NH, Otto PA, Pearson PL, Mingroni-Netto RC. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. Hum Genet 2008: 123 (6): 625-631.
3. Richieri-Costa A, Brunoni D, Laredo Filho J, Kasinski S. Tibial aplasia-ectrodactyly as variant expression of the Gollop-Wolfgang complex: report of a Brazilian family. Am J Med Genet 1987: 28 (4): 971-980.
4. Armour CM, Bulman DE, Jarinova O et al. 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). Eur J Hum Genet 2011: 19 (11): 1144-1151.
5. Klopocki E, Lohan S, Doelken SC et al. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet 2012: 49 (2): 119-125.
6. Petit F, Andrieux J, Demeer B et al. Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis. Eur J Med Genet 2013: 56 (2): 88-92.