De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome

Table 1

De novo mutation reports of Pfeiffer syndrome type 2 involving the FGFR2 gene.

Author/year	Inheritance	Sex	Craniofacial anomalies	Limb/digital anomalies	Outcome	Mutation
Benacerraf et al./2000 [21]	de novo mutation	M	Severe acrocephalic skull, fused sutures, flat facies, frontal bossing	Syndactyly of digits of both hands and feet, wide hallux	Still born	Mutation from G to T at codon 314 leading to alanine to serine amino acid substitution in axon 9 of the gene
Blaumeiser et al./2004 [22]	de novo mutation	M	Cloverleaf skull, flattening of the midface, flat and broad nasal bridge, bilateral ocular proptosis, short neck	Prominent thumbs and great toes, micropenis	Stillborn	1019A > G (Y340 C)
Gomez et al./2013 [23]	Heterozygosity	N/A	Cloverleaf cranium, severe proptosis	No observed hand and foot deformities	Pregnancy terminated	c.870 >T p.Trp 290Cys. Presumed de novo
Ohishi et al./2016 (case 5) [16]	Sporadic-de novo	M	Cloverleaf, exophthalmos choanal atresia	Humeroradial synostosis, broad 1^st toes	Developmental delay	c.870 G > T p.Trp290Cys
Ohishi et al./2016 (case 6) [16]	Sporadic-de novo	M	Brachycephaly, cloverleaf, exophthalmos, high arched palate	Radioulnar fusion, radially deviated thumbs, broad 1^st toes	Developmental delay	c.870 G > T p.Trp290Cys
Ohishi et al./2016 (case 7) [16]	Sporadic-de novo	M	Brachycephaly, cloverleaf,low-set ears, exophthalmos, saddle nose	Humeroradial synostosis, broad 1^st toes	Developmental delay	c.870 G > T p.Trp290Cys
Ohishi et al./2016 (case 8) [16]	Sporadic-de novo	F	Cloverleaf, exophthalmos	Humeroradial synostosis, broad first toes, syndactyly of 1st and 2nd toes	Developmental delay	c.1019 A > G p.Trp340Cys
Giancotti et al./2017 [5]	de novo mutation.	N/A	Cloverleaf, dolichocephaly, frontal bossing, depressed nasal bridge, proptosis, severe hypertelorism, upper jaw hypoplasia	Short humerus, 5^th finger clinodactyly, many superimposed phalanges. In lower limbs, shorter bones than normal, curved right tibia, clubfeet	Stillborn	c.870G4T(p.Trp290Cys) mutation in exon 7
Torres-canchala et al./2020 [11]	Sporadic-de novo	F	Cloverleaf-shaped skull, facial hypoplasia, low ears, exophthalmos	Wide, broad, and deviated thumbs and hallux.	Psychomotor retardation, sleep apnea	c.940–1G > C