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Carpenter syndrome in a patient from Tanzania
Author(s) -
Lodhia Jay,
RegoGarcia Iago,
Koipapi Sengua,
Sadiq Adnan,
Msuya David,
Spaendonk ResieVervennevan,
Hamel Ben,
Dekker Marieke
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62015
Subject(s) - tanzania , referral , medicine , pediatrics , genetic disorder , polydactyly , genetics , gene , biology , anatomy , geography , family medicine , environmental planning
Carpenter syndrome (acrocephalopolysyndactyly type II) is a rare autosomal recessive disorder. It was clinically diagnosed in a female baby with polysyndactyly and craniosynostosis in a referral clinic in Northern Tanzania. In the RAB23 gene, a previously described homozygous variant c.82C>T p.(Arg28*) was detected that results in a premature stop codon. Both parents were demonstrated to be heterozygous carriers of this variant. Herewith, its pathogenicity is proved. A literature search suggests this is the first molecularly confirmed case of Carpenter syndrome in continental Africa.