Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.
Am J Med Genet
; 102(3): 250-7, 2001 Aug 15.
Article
de En
| MEDLINE
| ID: mdl-11484202
Townes-Brocks syndrome (TBS) is a condition with imperforate anus, hand anomalies, and ear malformations with sensorineural hearing loss. Many cases are sporadic. Within and between families, the phenotype displays striking variability. Recently, the disease-causing gene for TBS was identified as SALL1, a zinc finger transcription factor. Here, we report a three-generation family with seven affected individuals who have a novel SALL1 mutation. Unique cardiac anomalies seen in this family include lethal truncus arteriosus in one patient and a lethal complicated defect, including pulmonary valve atresia, in a second patient. These severe cardiac anomalies have not previously been reported in a familial case of TBS. This family and a review of the literature indicate that cardiac evaluation is warranted in all individuals with this disorder. In addition, hypoplastic thumbs were seen in two individuals in this family and should, therefore, be considered a true feature of TBS.
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Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Imperforation anale
/
Facteurs de transcription
/
Malformations multiples
/
Surdité neurosensorielle
/
Cardiopathies congénitales
Type d'étude:
Prognostic_studies
Limites:
Female
/
Humans
/
Male
Langue:
En
Journal:
Am J Med Genet
Année:
2001
Type de document:
Article
Pays d'affiliation:
États-Unis d'Amérique
Pays de publication:
États-Unis d'Amérique