New Rare Syndromes: June-July

New Rare Syndromes: June-July

In Reports by CecileLeave a Comment

New Rare Syndromes: June-July

Novel form of congenital lipodystrophy and fatty liver disease due to biallellic loss-of-function mutations in PCYT1A in two unrelated patients

The authors identified two unrelated patients with defects in the Kennedy pathway due to biallellic loss-of-function mutations in PCYT1A. The phenotypic consequences include severe fatty liver and low HDL cholesterol levels. Both patients also had lipodystrophy, severe insulin resistance and diabetes.

PubMed

Novel form of microcephaly with severe visual impairments, intellectual disability and short stature caused by a homozygous loss of DIAPH1 in a consanguineous family

The authors described a novel form of microcephaly with severe visual impairment, intellectual disability and short stature caused by a homozygous nonsense alteration in DIAPH1 in a multiply-affected consanguineous family.

PubMed

Early-onset autosomal recessive retinitis pigmentosa with macular coloboma is associated with a missense mutation in DHX38 in one consanguineous family

The authors described four individuals of a consanguineous Pakistani family affected by early-onset autosomal recessive retinitis pigmentosa with macular coloboma due to a missense mutation in DHX38.

PubMed

New type of mitochondrial disorder due to a defect in mitochondrial protein synthesis linked to a homozygous mutation in TRIT1 in one family

The authors identified a novel form of severe combined mitochondrial respiratory chain defects and corresponding perturbation in mitochondrial protein synthesis associated to a homozygous mutation in TRIT1 in one family.

PubMed

New syndromes: May-June 2014

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