Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome
| Autor: | Tia Gordon, Haowei Du, Elizabeth J. Bhoj, K Taylor Wild, James R. Lupski, Shalini N. Jhangiani, Daryl A. Scott, Jennifer E. Posey, Elaine H. Zackai |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Male Bicornuate uterus Pathology medicine.medical_specialty Prominent forehead Mutation Missense Diaphragmatic breathing Gestational Age 030105 genetics & heredity Article 03 medical and health sciences Genetics medicine Humans Abnormalities Multiple Copy-number variation Hypertelorism Genetics (clinical) Omphalocele business.industry Infant Newborn Congenital diaphragmatic hernia Infant Syndrome Opitz G/BBB Syndrome medicine.disease Phosphoproteins 030104 developmental biology Child Preschool Female medicine.symptom business Hernias Diaphragmatic Congenital |
| Zdroj: | Am J Med Genet A |
| Popis: | Congenital diaphragmatic hernias (CDH) confer substantial morbidity and mortality. Genetic defects, including chromosomal anomalies, copy number variants, and sequence variants are identified in ~30% of patients with CDH. A genetic etiology is not yet found in 70% of patients, however there is a growing number of genetic syndromes and single gene disorders associated with CDH. While there have been two reported individuals with X-linked Opitz G/BBB syndrome with MID1 mutations who have CDH as an associated feature, CDH appears to be a much more prominent feature of a SPECC1L-related autosomal dominant Opitz G/BBB syndrome. Features unique to autosomal dominant Opitz G/BBB syndrome include branchial fistulae, omphalocele, and a bicornuate uterus. Here we present one new individual and five previously reported individuals with CDH found to have SPECC1L mutations. These cases provide strong evidence that SPECC1L is a bona fide CDH gene. We conclude that a SPECC1L-related Opitz G/BBB syndrome should be considered in any patient with CDH who has additional features of hypertelorism, a prominent forehead, a broad nasal bridge, anteverted nares, cleft lip/palate, branchial fistulae, omphalocele, and/or bicornuate uterus. |
| Databáze: | OpenAIRE |
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