A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature

Bai, Guibin; Yuan, Rougang; Yuan, Jian; Liu, Yanqin; Zhao, Shaozhi; Zhang, Xinwen

doi:10.1186/s12920-024-02036-w

BMC Medical Genomics

Table 2 Comparison of identified variants and phenotypic of patients

From: A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature

Reference; Subject	Wang et al., [18]		Pasquetti et al., [16]	Ding et al., [5]			Hanker et al., [20]			Diel et al., [2]	Khan et al., [23]	Okamoto et al., [24]	Hempel et al., [21]			Tsurusaki et al., [13]		Subject
cDNA change	c.148 A > C	c.811_814del	c.667del	c.337T > C	c.425 C > G	c.820 A > T	c.139 G > A	c.139 G > A	c.139 G > A	c.251G > T	c.1148dupG	c.305 C > T	c.359 C > A	c.150G > C	c.87 C > A	c.347 A > G	c.178T > C	c.700G > T
Protein change	p.Lys50Asn	p.Asn271Serfs*10	p.Asp223MetfsTer45	p.Tyr113H	p.Ala142G	p.Lys142*	p.Gly47Ser	p.Gly47Ser	p.Gly47Ser	p.Gly84Val	p.Gly384Argfs*14	p.Ala102Val	p.Pro120His	p.Lys50Asn	p.Cys29*Nonsense	p.Tyr116Cys	p.Ser60pro	p.Glu234*
Gender	Male	Male	Female	Male	Female	Male	Female	Female	Female	Male	Male	Male	Female	Male	Male	Female	Female	Female
Born at full term	39 W	40.5 W	38 W	Full term	Full term	Full term	40 W	31 W	NK	NK	NK	41 W	41 W	40 W	NK	38 W	NK	40 W
Birth weight	3300 g	3900 g	NK	2100 g	3500 g	3200 g	2875 g	1055 g	NK	NK	NK	2900 g	3118 g	3800 g	NK	2340 g	NK	3400 g
Age	3 years	10 months	14 years	3 years	5.5 years	8 years	12 years	8 years	51 years	3.4 years	14 years	5 years	12 years	11 years	6 years	10 years	17 years	12 years
Phenotype
Delayed development	+	+	+	-	+	+	+	+	+	+	+	+	+	+	+	+	+	+
Intellectual development	+	+	NK	-	+	+	+	+	+	+	+	+	+	-	-	+	+	+
Epilepsy	-	+	-	-	-	-	-	-	-	-	-	-	+	-	-	-	-	-
Hypotonia	+	+	+	+	-	-	+	+	-	+	+	-	-	-	-	+	+	+
Vision poblems	-	-	+	-	-	-	-	-	-	+	-	-	+	+	+	+	-	-
Hearing anomalies	+	+	-	-	-	-	-	-	-	+	+	-	-	+	-	-	-	+
Speech delay	+	+	+	-	+	-	+	+	-	-	+	+	+	+	+	-	-	+
Walking delay	+	-	+	-	+	-	+	+	+	+	+	+	+	+	+	+	-	-
Poor weight gain	+	-	+	+	-	+	-	-	-	-	-	-	+	+	-	-	-	+
Short stature	-	+	+	+	-	+	+	+	+	+	-	+	+	-	-	+	+	+
Behavioral abnormalities	-	-	+	-	-	-	-	-	-	-	+	-	-	-	+	+	-	-
Hypoplastic fifth finger/ toe nail	+	+	-	+	-	-	+	+	+	+	+	-	-	-	+	+	+	-
Clinodactyly	+	+	-	+	-	-	+	+	-	+	+	-	+	+	+	+	+	-
Syndactyly	-	-	-	-	-	-	+	+	+	-	-	-	-	+	-	-	-	-
Hypoplastic nails	-	-	-	-	-	-	-	-	-	-	-	+	-	-	-	-	-	+
Scoliosis	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	+
Hypertrichosis	-	-	-	-	-	-	-	-	-	-	-	+	-	-	-	+	+	-
Recurrent respiratory tract infections	-	+	-	-	-	-	-	-	-	-	-	-	-	-	-	-	+	+
Coarse face	+	+	+	+	+	+	+	+	+	+	+	+	-	-	+	-	-	-
Sparse scalp hair	-	+	-	+	+	-	+	-	-	+	+	-	-	-	-	-	+	+
High hairline	-	+	-	+	+	+	-	-	-	-	+	-	-	-	+	-	-	-
Arched brow	-	-	+	+	+	-	-	-	-	+	+	+	-	-	+	+	+	-
Frontal bossing/large forehead	+	+	-	+	+	+	-	-	-	-	+	-	-	-	-	-	-	-
Flat nasal bridge	+	+	-	+	+	+	-	+	-	+	+	-	-	-	-	+	-	-
Wide mouth	-	+	+	-	+	-	-	-	-	+	-	-	+	-	+	-	-	-
Thick lips	-	+	-	-	-	-	+	+	-	+	-	+	+	-	+	+	-	-
Abnormal ears	+	+	+	+	+	-	-	-	-	+	-	-	-	-	-	+	-	-
Cleft palate	-	-	-	-	+	-	-	-	-	-	+	-	-	-	-	-	-	-
Microcephaly	+	+	-	-	-	+	-	-	-	+	+	+	+	+	-	+	+	-
Sleep disturbances	-	-	+	-	-	-	-	-	-	-	+	-	-	-	-	-	-	-
Enuresis	-	-	-	-	-	-	-	-	-	-	-	-	-	-	+	-	-	+
Ventricular septal defect	-	-	-	-	-	-	-	-	-	-	-	+	-	-	-	-	-	+
Strabismus	-	-	+	-	-	-	+	+	-	-	-	-	-	+	-	-	-	-
External genitalia Small/genital anomalies	+	-	-	+	-	+	-	-	-	+	-	-	-	+	-	-	-	+

* NK, Not Know; +, with phenotype; -, without expression or not know

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