NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family

Table 3

Specific mutations in the PSIS boy.

Pos	Gene	Chr	Start	End	Ref	Alt	Type
Exonic	TRIOBP	chr22	37724147	37724147	G	A	Nonsynonymous SNV
Exonic	GP1BA	chr17	4933823	4933900	AGC……CCC	—	Nonframeshift deletion
Exonic	FCGBP	chr19	39902043	39902043	A	G	Nonsynonymous SNV
Exonic	RANGAP1	chr22	41254465	41254467	TCC	—	Nonframeshift deletion
Exonic	POTEG	chr14	19433854	19433854	C	T	Nonsynonymous SNV
Exonic	DNAJB6	chr7	157385630	157385630	G	A	Nonsynonymous SNV
Exonic	FAM155A	chr13	107866364	107866365	TG	—	Frameshift deletion
Exonic	FAM155A	chr13	107866367	107866379	CGC……GCT	—	Frameshift deletion
Exonic	GAGE2A,	chrx	49590729	49590729	C	T	Nonsynonymous SNV
	GAGE2B,
	GAGE2C
Exonic	EPHA6	chr3	96814795	96814797	GAG	—	Nonframeshift deletion
Exonic	FCGBP	chr19	39902109	39902109	T	G	Nonsynonymous SNV
Exonic	TAL1	chr1	47219924	47219925	AG	—	Frameshift deletion
Exonic	FLG	chr1	152312347	152312347	A	G	Nonsynonymous SNV
Exonic	MUC12	chr7	100997864	100997864	G	A	Nonsynonymous SNV
Exonic	RASA4B	chr7	102485138	102485138	C	T	Nonsynonymous SNV
Exonic	AGAP9	chr10	47502991	47502991	C	T	Nonsynonymous SNV
Exonic	ZNF705E	chr11	71818808	71818808	T	C	Nonsynonymous SNV
Exonic	NPIPB11	chr16	29383805	29383805	C	T	Nonsynonymous SNV
Exonic	ZNF705E	chr11	71818809	71818809	G	A	Stop-gain