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Article

Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents.

American journal of medical genetics. Part A - 1 Aug 2012

Okamoto Toshio, Nagaya Ken, Asai Hiroko, Tsuchida Etsushi, Nohara Fumikatsu, Hayashi Tokitsugi, Yamashita Akiko, Nishimura Gen, Azuma Hiroshi

Abstract excerpt

Heterozygous COL2A1 mutations create a group of skeletal dysplasias collectively termed type II collagenopathies. Sporadic cases of type II collagenopathies are almost exclusively caused by de novo mutations. Very few cases with intrafamilial recurrence due to germinal mosaicism have been known. We report here on a family in which a severe form of skeletal dysplasia was recurrent in two sibs whose phenotype was...

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PMID: 22711552
DOI: 10.1002/ajmg.a.35509

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