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"Novel Intervening Sequence Mutation at the 5

Florida, Fort Myers
Endocrinology, Diabetes, & Metabolism
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* Date : 05-09-2011 - 05:57 AM (4598 days ago),

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"Novel Intervening Sequence Mutation at the 5

We describe a novel mutation of the SOX9 gene not associated with sex reversal.Skeletal anomalies at birth associated with any degree of genital ambiguity should warrant SOX9 gene analysis.Although our case report did not display sex reversal,the presence of hypospadias in association with abnormal long bone structures and Pierre-Robin sequence was enough evidence to suspect SOX9 gene defect. Campomelic Dysplasia (CD) is an autosomal dominant disorder typically characterized by bowing of the long bones,Pierre-Robin sequence,cleft palate and absent corpus collosum among others (1,2).The majority of affected male infants (up to 75%) will also have sex reversal.The gene causing CD,SOX9,has been mapped to chromosome 17(17q24.3-q25.1).Clinical case:XY determined male infant born at 35wk gestation to healthy nonconsanguineous parents with birth weight of 2.3kg (25%) and length of 38cm(<10%).Soon after birth,absent corpus collosum and olfactory bulb hypoplasia were noted on brain MRI in addition to cleft palate,pretibial skin dimples, femora bowing and grade I hypospadias.
Journal/Publication - The Endocrine Society, June 2010

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