Table 1.

GSC Mutations and Associated Clinical Features in SAMS Individuals

Individual ID	Aa	Ba	C	D
Karyotype	46,XXb	arr CGH 14q32.13(95,204,793–95,511,597)x0 [hg19]	46,XYb	46,XYb
GSC nucleotide mutation	c.400C>T	chr14.hg19:g.95,204,793_95,511,597del	c.196_212del	c.355+1G>C
Predicted protein alteration	p.Gln134∗	p.?	p.Gly66Argfs∗98	p.?
Country of origin (ethnic group)	Canada (Mennonite)	Afghanistan	Pakistan (Mirpuri)	Bangladesh
Gender (present age)	F (26 years)	F (19 years)	M (6 years)	M (9 months)
Consanguinity (degree)	+ (first cousin)	+ (first cousin)	+ (first cousin)	+ (first cousin)
Height in cm (centile)	142 (<3rd)	157 (<3rd)	(<0.4th)	52 (<0.4th)
Weight in kg (centile)	37 (<3rd)	42 (<2nd)	1.95 (2nd)c	5.52 (<0.4th)
Microcephaly (OFC centile)	+ (5th)	−	−	+ (<0.4th)
Neonatal respiratory insufficiency	−	−	+	−
Neonatal feeding difficulties	+	−	+	+
Bilateral auditory canal atresia	+	+	+	+
Abnormal/fused middle ear ossicles	+	−	+	ND
Conductive hearing loss (dB)	+	+ (40)	+ (30)	+
Simple or dysplastic pinnae	+	+	+	+
Preauricular pits (+) or tags (++)	−	+	++	−
Malar hypoplasia	+	−	+	−
Micrognathia	+	+	+	+
High-arched palate	+	−	+	ND
Scapulo-humeral synostosis	+L/+R	+L/+R	+L/−R	+L/+R
Lumbar hyperlordosis	+	+	−	−
Short humeri and distal metaphyseal flaring	+	+	+	−
Radial head dislocation	−	+L/+R	+L/+R	ND
Short ulnae	+	+	−	−
Delayed/absent ossification of pubic bones	+	+	+	+
Narrow sacrosciatic notches	+	+	−	+
Central dislocation of the hips	+	+	+	+
Proximal femoral defects	+L/+R	+R	−	+
Bilateral talipes	−	+	+	+
Cryptorchidism or other urogenital anomalies	+	+	+	+

Abbreviations are as follows: +, present; −, absent; ND, not determined; M, male; F, female; L, left; R, right; OFC, occipitofrontal circumference; and ?, unknown.

^aClinical information on individuals A and B has been published previously.^3,4

^bNormal karyotype by high-resolution microarray analysis.

^cBirth weight.