Split hand/foot malformation with long ...
Document type :
Article dans une revue scientifique: Article original
PMID :
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Title :
Split hand/foot malformation with long bone deficiency associated with bhlha9 gene duplication: a case report and review of literature
Author(s) :
Paththinige, Chamara Sampath [Auteur]
Sirisena, Nirmala Dushyanthi [Auteur]
Escande, Fabienne [Auteur]
Manouvrier, Sylvie [Auteur]
Petit, Florence [Auteur]
Dissanayake, Vajira Harshadeva Weerabaddana [Auteur]
Sirisena, Nirmala Dushyanthi [Auteur]
Escande, Fabienne [Auteur]
Manouvrier, Sylvie [Auteur]

Petit, Florence [Auteur]

Dissanayake, Vajira Harshadeva Weerabaddana [Auteur]
Journal title :
BMC Medical Genetics
Abbreviated title :
BMC Med. Genet.
Volume number :
20
Pages :
108
Publication date :
2019-06-14
ISSN :
1471-2350
Keyword(s) :
Ectrodactyly
Split hand
foot malformation
Split hand
foot malformation with long bone deficiency
17p13.3 duplication
BHLHA9
Split hand
foot malformation
Split hand
foot malformation with long bone deficiency
17p13.3 duplication
BHLHA9
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplication or ...
Show more >Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplication or micro-triplication involving 17p13.3 region has been described as the most common cause of split hand/foot malformation with long bone deficiency (SHFLD) in several different Caucasian and Asian populations. Gene dosage effect of the extra copies of BHLHA9 gene at this locus has been implicated in the pathogenesis of SHFLD. The proband was a female child born to non-consanguineous parents. She was referred for genetic evaluation of bilateral asymmetric ectrodactyly involving both hands and right foot along with right tibial hemimelia. The right foot had fixed clubfoot deformity with only 2 toes. The mother had bilateral ectrodactyly involving both hands, but the rest of the upper limbs and both lower limbs were normal. Neither of them had any other congenital malformations or neurodevelopmental abnormalities. Genetic testing for rearrangement of BHLHA9 gene by quantitative polymerase chain reaction confirmed the duplication of the BHLHA9 gene in both the proband and the mother. We report the first Sri Lankan family with genetic diagnosis of BHLHA9 duplication causing SHFLD. This report along with the previously reported cases corroborate the possible etiopathogenic role of BHLHA9 gene dosage imbalances in SHFM and SHFLD across different populations.Show less >
Show more >Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplication or micro-triplication involving 17p13.3 region has been described as the most common cause of split hand/foot malformation with long bone deficiency (SHFLD) in several different Caucasian and Asian populations. Gene dosage effect of the extra copies of BHLHA9 gene at this locus has been implicated in the pathogenesis of SHFLD. The proband was a female child born to non-consanguineous parents. She was referred for genetic evaluation of bilateral asymmetric ectrodactyly involving both hands and right foot along with right tibial hemimelia. The right foot had fixed clubfoot deformity with only 2 toes. The mother had bilateral ectrodactyly involving both hands, but the rest of the upper limbs and both lower limbs were normal. Neither of them had any other congenital malformations or neurodevelopmental abnormalities. Genetic testing for rearrangement of BHLHA9 gene by quantitative polymerase chain reaction confirmed the duplication of the BHLHA9 gene in both the proband and the mother. We report the first Sri Lankan family with genetic diagnosis of BHLHA9 duplication causing SHFLD. This report along with the previously reported cases corroborate the possible etiopathogenic role of BHLHA9 gene dosage imbalances in SHFM and SHFLD across different populations.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
Université de Lille
Collections :
Submission date :
2021-09-02T07:02:05Z