PHACES‐like syndrome with TMEM260 compound heterozygous variants

PHACES syndrome is a multiple congenital disorder with unknown etiology that is characterized by Posterior fossa anomalies, Hemangioma, Arterial lesions, Cardiac abnormalities/coarctation of the aorta, Eye anomalies, and Sternal cleft. Compound heterozygous or homozygous TMEM260 variants cause struc...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2023-08, Vol.191 (8), p.2215-2218
Main Authors: Kuroda, Yukiko, Saito, Yoko, Enomoto, Yumi, Naruto, Takuya, Mitsui, Jun, Kurosawa, Kenji
Format: Article
Language:English
Subjects:
Aorta
Creatinine
Fetuses
Hearing loss
Heart
Hemangioma
Intellectual disabilities
Nevus
PHACE syndrome
PHACES syndrome
Phenotypes
Renal failure
structural heart defects and renal anomalies syndrome
supraumbilical raphe
TMEM260
truncus arteriosus
Vertebrae
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Description
Summary:PHACES syndrome is a multiple congenital disorder with unknown etiology that is characterized by Posterior fossa anomalies, Hemangioma, Arterial lesions, Cardiac abnormalities/coarctation of the aorta, Eye anomalies, and Sternal cleft. Compound heterozygous or homozygous TMEM260 variants cause structural heart defects and renal anomalies syndrome (SHDRA). We describe a 10‐year‐old male patient with a PHACES‐like syndrome and TMEM260 compound heterozygous variants who demonstrated overlapping phenotypes between the two syndromes. He presented with truncus arteriosus, supraumbilical raphe, ophthalmological abnormality, vertebral abnormality, borderline intellectual disability, and hearing loss. He had normal serum creatinine. In proband exome sequencing, compound heterozygous TMEM260 variants (NM_017799.4 c.1617delG p.(Trp539Cysfs*9)/c.1858C > T p.(Gln620*)) were identified. Twelve patients have been reported with TMEM260‐related SHDRA: 10 had truncus arteriosus and 6 had renal failure. One previously reported patient had facial port wine nevus and another patient had supraumbilical raphe, which are the cardinal signs for PHACES syndrome. TMEM260‐related SHDRA could share overlapping clinical features with PHACES syndrome. This report expands the phenotypic spectrum of a TMEM260‐related disorder.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.63245