Table 1.

Clinical Features, Origin, and Molecular Findings in Subjects with KCS or OCS

Subject	Gender	Origin	Clinical Diagnosis	Age at Follow-up	Presence of Hypocalcemia	Length or Staturea	Other Features	FAM111A Mutationsb			Predicted FAM111A Substitution
								Proband	Mother	Father
1	F	Switzerland	KCS	40 years	yes	−6 SDs	defective dentition, premature shedding, hypermetropia, cataracts, hypoacusis, high-pitched voice	c.1706G>A	WT	WT	p.Arg569His
2	M	India	KCS	17 years	yes	−6 SDs	defective dentition, hypermetropia	c.1706G>A	WT	NA	p.Arg569His
3	M	Germany	KCS	10 years	NA	−7 SDs	hypermetropia	c.1706G>A	NA	NA	p.Arg569His
4	F	Italy	KCS	6 months	yes	−2 SDs at birth, −3 SDs at 6 months	-	c.1706G>A	WT	WT	p.Arg569His
5	M	India	KCS	7 years	NA	−5 SDs	open anterior fontanel, defective dentition, high-pitched voice	c.1531T>C	NA	NA	p.Tyr511His
6	M	Sweden	OCS	deceased at age 3 days	yes	−5 SDs	micropenis, asplenia at autopsy	c.1026_1028delTTC	WT	WT	p.Ser342del
7	M	Italy	OCS	deceased at age 25 days	yes	−3 SDs at birth	micropenis, spleen present, extramedullary haemopoiesis	c.1026_1028delTTC	WT	WT	p.Ser342del
8	M	Chile	OCS	deceased at age 2 months	yes	−5 SDs at birth	femoral fracture at birth, microphthalmia	c.1012A>G	WT	WT	p.Thr338Ala
9	M	Sweden	OCS	age 20 months	yes	−6 SDs at birth	hydrocephalus (requiring shunt), seizures, micropenis, bone fragility, severe failure to thrive, hepatopathy, developmental delay	c.1583A>G	WT	WT	p.Asp528Gly
10	M	Japan	OCS	deceased at age 8 months	yes	−3.5 SDs at birth	hydrocephalus, micropenis,	c.1579C>A	WT	WT	p.Pro527Thr

Abbreviations are as follows: M, male; F, female; NA, not applicable; WT, wild-type; and NA, not available.

^aLength for babies and stature for children and adults.

^bIn affected subjects, all FAM111A mutations were found to be heterozygous.