Discontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations: A case report

Table 3 Result of the boosted whole exome screening

Gene	Function of the protein coded	Mutation	Source	Associated disease
RIMS1	A RAS gene superfamily member that regulates synaptic vesicle exocytosis	Point mutation Thr1047His	Maternal, heterozygous	Cone-rod dystrophy type 7
HSPG2	Perlecan that is found in the extracellular matrix	Point mutation Asp2305Asn	Maternal, homozygous	S-J syndrome type 1
APC	Negative regulator of β-catenin/Wnt pathway	Point mutation Lys1586Met	Maternal, heterozygous	Colorectal cancer associated with FAP
BGN	A member of the SLRP family	Point mutation p.Asp168Glu	Maternal, heterozygous	SPD X-linked MLS
BMPR1B	Transmembrane serine/threonine kinases involving TGF-β pathway	Point mutation Met301Val	Maternal, heterozygous	Pulmonary arterial hypertension
CC2D2A	Play a critical role in cilia formation	Point mutation Gly317Arg	Maternal, heterozygous	Meckel syndrome type 6. Joubert syndrome type 9
CDH23	Cadherin superfamily involved in stereocilia organization and hair bundle formation	Point mutation Asp168Glu	Spontaneous, heterozygous	Breast cancer
CHD7	Protein that contains several helicase family domains	Point mutation Asp1486Gly	Spontaneous, heterozygous	CHARGE syndrome
FLNA	An actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins	Point mutation Asp1314Asn	Maternal, heterozygous	Several syndromes including PNH, OPDS, FMD and so on
CILK1	Eukaryotic protein kinases	Point mutation Val215Met	Maternal, homozygous	ECD

ECD: Endocrine-cerebroosteo-dysplasia; FAP: Family adenous polyps; FMD: Frontometaphyseal dysplasia; MLS: Meester-Loeys syndrome; OPDS: Otopalatodigital syndromes; PNH: Periventricular nodular heterotopias; SJS: Schwartz-Jampel syndrome; SLRP: Small leucine-rich proteoglycan; SPD: Spondyloepimetaphyseal dysplasia; TGF-β: Transforming growth factor beta.