Literature summary for 4.4.1.17 extracted from

Qidwai, K.; Pearson, D.; Patel, G.; Pober, B.; Immken, L.; Cheung, S.; Scott, D.
Deletions of Xp provide evidence for the role of holocytochrome c-type synthase (HCCS) in congenital diaphragmatic hernia (2010), Am. J. Med. Genet. A, 152, 1588-1590.

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Application

Application	Comment	Organism
medicine	patient with deletion of the HCCS gene, diagnosis of a microphthalmia with linaer skin defects syndrome. Patient showed bilateral microphthalmia with optic atrophy, a congenital cataract, linear vascular lesions on the cheeks, neck and nose, apparently small, cupped poorly formed ears, anteverted nares, small areolae, a prominent xiphoid, an apparently small phallus, and right cryptorchidism. He had a patent ductus arteriosus, a patent foramen ovale and severe pulmonary hypertension attributed to pulmonary hypoplasia. Head ultrasound showed bilateral ventriculomegaly and agenesis of the corpus callosum. He also had poor tone and diminished reflexes on neurological examination. Patient died at 4 days of age	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P53701	-	-

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Release 2023.1 (January 2023)