Table 2.

Summary of WNT1 mutations.

	Reference	Gene mutation	Phenotype
Monoallelic mutations	Proband and her father	c.666G>A(p.Gly222Arg)	•1 male, 1 female •Recurrent traumatic fractures •Low bone mineral density
	Keupp et al. (2013)	c.703C > T (p.Arg235Trp)	•2 males, 3 females •Recurrent fractures of vertebrae and ribs beginning in adolescence •Low-bone-turn- over markers, and a reduction of trabecular and cortical bone
	Laine et al. (2013)	c.652 T > G (p.Cys218Gly)	•4 males, 6 females •Severe early-onset osteoporosis •Low-impact vertebral and peripheral •fractures
Compound mutations	Fahiminiya et al. (2013)	c.946_949insAACA (p.Ser317Lysfs) and c.1063G > T (p.Val355Phe)	•1 female •Short stature •Low bone density •Severe vertebral compression fractures •Multiple long bone fractures
	Pyott et al. (2013)	c.506dupG (p.Cys170Leufs*6) and c.259C > T (p.Gln87*)	•1 male •Multiple fractures •Poor feeding •Delayed development •Recurrent infections
	Aldinger Et al (2016)	c.184C > T (p.Gln62*) and c.677C > T (p.Ser226Leu)	•4 males, 2 females •Multiple fractures •Bone deformities •Intellectual disability •Neurological abnormalities including seizures, absence of speech, and inability to feed •Brainstem and cerebellar hypoplasia
	Yeon Won et al. (2017)	c.369A > C (p.Glu123Asp) and c.457 T > G (p.Cys153Gly)	•1 female •Early onset recurrent fractures of vertebrae and extremities •Bone deformity •Short stature
Biallelic Mutations	Keupp et al. (2013)	c.859dupC (p.His287Profs*30)	•2 males, 1 female •Early onset recurrent fractures of extremities •Bone deformity •Reduction of bone density •Short stature •Bluish sclera in some affected individuals
		c.529G > T (p.Gly177Cys)	•1 female •Early onset recurrent fractures of vertebrae and extremities •Bone deformity •Short stature •Blue sclera
		c.624 + 4A > G	•1 male •Multiple fractures of vertebrae and extremities •Bone deformity •Short stature
		c.565G > T (p.Glu189*)	•1 male •Early onset (in utero) recurrent fractures of vertebrae and extremities •Bone deformity •Short stature
		c.893 T > G (p.Phe298Cys)	•1 male, 2 females •Early onset of recurrent fractures of extremities and vertebrae •Bone deformity •Short stature •Faint blue sclera
	Pyott et al. (2013)	c.893 T > G (Phe298Cys)	•1 male, 1 female •Early onset of recurrent fractures •Long-bone deformity. •Blue sclera
		c.884C > A (p.Ser295*)	•2 males •Early onset of recurrent fractures of vertebrae and extremities •Developmental delays •Brain deformities (1 proband) •Autism
		c.287_300delAGTTCCGGAATCGC (p.Gln96Profs*54)	•1 female •Multiple fractures, including lumbar vertebrae •Short stature •Developmental delays •Right ptosis
	Laine et al. (2013)	c.884C > A (p.Ser295*)	•2 females •Early onset multiple fractures, including vertebral compression •Kyphoscoliosis •Severe short stature •Deformities of the long bones •Intellectual disability •Absence of speech (one of the probands) •Neurological deformities •Quadriplegic
	Fahiminiya et al. (2013)	c.428G > T (p.Cys143Phe)	•1 male, 1 female •Short stature •Multiple long bone and vertebral compression fractures
		c.287_300del (p.Gln96Profs)	•1 female •Short stature •Multiple long bone and vertebral compression fractures
	Faqeih et al. (2013)	c.990C > A (p.Cys330*)	•1 male •Severe hypotonia •Disfigured skull •Bone deformities •Recurrent chest infection. •Early recurrent fractures •Severe global developmental delay •Short stature •Seizures
	Stephen et al. (2014)	c.525_536delCTTCGGCCGCCT (p.Phe176_Leu179del)	•2 males, 5 females •Early onset multiple fractures •Bone deformity •Short stature

Gene mutation and phenotypic correlation of reported monoallelic, compound and biallelic WNT1 mutations.