Carpenter syndrome in a patient from Tanzania

Jay Lodhia*, Iago Rego-Garcia, Sengua Koipapi, Adnan Sadiq, David Msuya, Resie Vervenne van Spaendonk, Ben Hamel, Marieke Dekker

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

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.

Original languageEnglish
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume185
Issue number3
DOIs
Publication statusAccepted/In press - 2020

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