Table 2.
Review of genotype and auditory phenotypes in familial hypoparathyroidism-deafness-renal syndrome
| Type | Exon | DNA | Protein | Relationship | Deafness | Diagnosis time (years or as denoted) | Reference |
|---|---|---|---|---|---|---|---|
| Missense/nonsense | 2 | c. 64C>T | p.Gln22* | Mother female† | B | Adult | [7] |
| Son male† | B | 2 | |||||
| c. 149delT | p.Phe51Leufs*144 | Mother female† | B | 16 | [9] | ||
| Daughter female† | B | 7 | |||||
| c. 515C>A | p.S172* | Father male† | B | Birth | [10] | ||
| Son male† | B | Birth | |||||
| 3 | c. 708delC | p.Ser237Alafs*29 | Mother female† | L > R | 3 | [7] | |
| Daughter female† | B | 2.5 | |||||
| Son male† | B | Birth | |||||
| c. 404-405insC | p.Ala136Glyfs*168 | Father male | B | 7 | [7] | ||
| Daughter female | B | 3 | |||||
| Sister female | B | 8 | |||||
| Father male | B | Childhood | [11] | ||||
| Daughter female | B | 3 | |||||
| c. 682G>T | p.Gln228* | Mother female | B | <25 | [12] | ||
| Son male | B | 4 | |||||
| c. 736delGinsAT | p.G246Mfs57* | Mother female | NM | NM | [13] | ||
| Daughter female | L | NM | |||||
| 4 | c. 823T>A | p.W275R | Mother female | NM | Childhood | [14] | |
| Daughter female | NM | Childhood | |||||
| c. 827C>G | p.R276P | Mother female | B | Childhood | [15] | ||
| Daughter female | B | Childhood | |||||
| Daughter female | B | Childhood | |||||
| c. 826C>T | p.R276* | Mother and Son | NM | Unknown | [6] | ||
| Grandmother female | B | 20 | This study | ||||
| Mother female† | B | 19 | |||||
| Son male† | B | 5 | |||||
| c. 856A>G | p.N276D | Father male | B | Infancy | [16] | ||
| Daughter female | B | Infancy | |||||
| Daughter female | B | Infancy | |||||
| c. 883-886delAACG | p.Asn295Aspfs*60 | Mother female† | B | 38 | [7] | ||
| Daughter female† | B | 7 | |||||
| Son male† | B | 5 | |||||
| p.R299Q | Mother female† | B | 41 | [17] | |||
| Daughter female† | B | <27 | |||||
| 5 | c. 942T>A | p.C318S | Father male | B | NM | [18] | |
| Son male | B | Elementary school | |||||
| Daughter female | B | NM | |||||
| c. 1514CA>C | p.Asn320Lys | Mother female† | B | 24 | [12] | ||
| Daughter female† | B | 4 | |||||
| 6 | c. 1059A>T | p.R353S | Mother female | B | Childhood | [19] | |
| Daughter female | B | 5 | |||||
| Son male | B | 4 | |||||
| c. 1099C>T | p.R367* | Mother female | NM | Possible childhood | [14] | ||
| Daughter female | NM | Possible | |||||
| Small indel | 3 | c. 431delG | p.Gly144Alafs*51 | Mother female | B | 6 | [20] |
| Daughter female | B | 2 | |||||
| 3 | c. 478delG | p.Asp160Thrfs*35 | Father male | B | Childhood | [19] | |
| Son male | B | 10 | |||||
| Son male | B | 17 | |||||
| 3 | c. 604delC | p.Arg202Valfs*4 | Mother female | B | <30 | [12] | |
| Son male | B | 3 | |||||
| 3 | c. 709insC | p.Ser273Glnfs*67 | Mother female | B | NM | [21] | |
| Daughter female | L | NM, | |||||
| 4 | c. 901delCinsAACCCT | p.Leu301Asn*57 | Father male | B | Childhood | [14] | |
| Daughter male | B | 27 | |||||
| Daughter male | ABRnormal | 2months | |||||
| Small insert | 2 | c. 255_256insGTGC | p.Arg86Valfs*219 | Father male | NM | NM | [22] |
| Son male | B | NM | |||||
| 3 | c. 523-528dup | p.Gln178Profs*19 | 3 generations 5 people | B | All childhood | [23] | |
| Splicing | Intron4 | IVS4+2T>GCTTACTTCCC | Mother female | B | Children | [19] | |
| Daughter female | B | 2 | |||||
| Intron4 | IVS4+4_19del | Mother female | B | Infancy | [16] | ||
| Son male | B | Infancy | |||||
| Intron5 | IVS5+1G>C | Son male† | B | 1 | [24] | ||
| Father male† | NO | NO | |||||
| Grandmother† | NO | NO | |||||
| Gene deletions | – | 250 kb deletion | Deletion of one allele | Uncle male† | B | Adulthood | [6] |
| Brother male† | B | 1 | |||||
| Niece female† | B | At birth | |||||
| Niece female | B | 5 |
*Represents the stop of coding, †Hearing impairment occurred earlier at least a decade or more severe in parent-child pairs. B: Bilateral; R: Right ear; L: Left ear; NM: Not mentioned; ABR: Auditory brainstem response; NO: No existence of deafness.